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Article

Determinants of onset age in Friedreich's ataxia.

Journal of neurology - 1 Mar 1998

De Michele G, Filla A, Criscuolo C, Scarano V, Cavalcanti F, Pianese L, Monticelli A, Cocozza S

Abstract excerpt

We studied the factors that might influence onset age in Friedreich's ataxia in 41 cases (20 male, 21 female) homozygous for GAA expansion on the first intron of X25 gene. Patients came from 18 multiplex families (13 couples, 5 triplets). Mean age (SD) was 18.1 (8.9) years and did not differ by gender. Onset age and the sizes of the smaller (GAA1) and the larger (GAA2) allele in each pair showed high intrafamily...

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Source

Identifiers

PMID: 9553847
DOI: 10.1007/s004150050198

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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